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Objective Individuals with cleft lip and palate (CLP) are at a high risk of developing obstructive sleep apnea (OSA). Hypothetically, the severity of OSA might be associated with the morphology of the upper airway (UAW) and the characteristics of the airflow. Thus, the present study aimed to assess and compare, in adults with CLP and skeletal class-III discrepancy, with or without OSA, simulations of airflow resistance and pressure according to the geometrical characteristics of the UAW and cephalometric parameters.

Cleft hand is a rare congenital deformity characterized by a longitudinal deficiency of the central rays of the hand, which may be associated with other malformations. Due to the wide spectrum of manifestations, the treatment is challenging. This study aims to present the most suitable classifications, surgical techniques and follow-up adopted according to the clinical manifestation. A search was performed in the databases Web of Science, PubMed, Scopus, Cochrane and Embase, descriptors and terms related to the hand anomaly in a typical cleft. Thirty-two articles were included and analyzed regarding the classification of the anomaly, classification of the severity of expression, surgical techniques and studies with information on the surgical intervention adopted for a cohort of patients. Considering that studies about cleft hand could be directly affected by embryological, genetic and molecular biology discoveries, different classifications have been described and several studies to complement existing surgical techniques have been found. Innovative studies are scarce. Standardization in the description of techniques and results, in addition to better quality research, could elucidate gaps that still exist around treatment options.

WD40-repeat (WDR)-containing proteins constitute an evolutionarily conserved large protein family with a broad range of biological functions. In human proteome, WDR makes up one of the most abundant protein-protein interaction domains. Members of the WDR protein family play important roles in nearly all major cellular signalling pathways. Mutations of WDR proteins have been associated with various human pathologies including neurological disorders, cancer, obesity, ciliopathies and endocrine disorders. This review provides an updated overview of the biological functions of WDR proteins and their mutations found in congenital disorders. We also highlight the significant role of WDR proteins in ciliopathies and endocrine disorders. The new insights may help develop therapeutic approaches targeting WDR motifs.

Objective. To describe perinatal and neonatal outcomes in newborns exposed to SARS-CoV-2. Methods. A systematic review was conducted by searching PubMed Central, LILACS, and Google Scholar using the keywords ‘covid’ AND ‘newborn’ OR ‘child’ OR ‘infant,’ on 18 March 2020, and again on 17 April 2020. One researcher conducted the search and extracted data on demographics, maternal outcomes, diagnostic tests, imaging, and neonatal outcomes. Results. Of 256 publications identified, 20 met inclusion criteria and comprised neonatal outcome data for 222 newborns whose mothers were suspected or confirmed to be SARS-CoV-2 positive perinatally (17 studies) or of newborns referred to hospital with infection/pneumonia (3 studies). Most (12 studies) were case-series reports; all were from China, except three (Australia, Iran, and Spain). Of the 222 newborns, 13 were reported as positive for SARS-CoV-2; most of the studies reported no or mild symptoms and no adverse perinatal outcomes. Two papers among those from newborns who tested positive reported moderate or severe clinical characteristics. Five studies using data on umbilical cord blood, placenta, and/or amniotic fluid reported no positive results. Nine studies reported radiographic imaging, including 5 with images of pneumonia, increased lung marking, thickened texture, or high-density nodular shadow. Minor, non-specific changes in biochemical variables were reported. Studies that tested breast milk reported negative SARS-CoV-2 results. Conclusions. Given the paucity of studies at this time, vertical transmission cannot be confirmed or denied. Current literature does not support abstaining from breastfeeding nor separating mothers and newborns. Further evidence and data collection networks, particularly in the Americas, are needed for establishing definitive guidelines and recommendations.

Abstract: Rapidly involuting congenital hemangioma is a rare vascular tumor that generally has a good prognosis. The authors describe a case of a newborn girl with a left cervical vascular lesion. Image exams were performed, and the lesion slowly decreased, leaving redundant skin. Considering all of the findings, a final diagnosis of a rapidly involuting congenital hemangiomas was suspected.

Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as congenital heart block. The typical cutaneous manifestations include erythematous, scaly, annular or arched lesions on the face, with slight central atrophy and photosensitivy, clinically and histologically similar to subacute cutaneous lupus. However, in some cases, the lesions may resemble those in cutis marmorata telangiectatica congenita, although this phenomenon is rare and only eight such cases have been reported to date. We report a case of cutaneous neonatal lupus with atypical lesions on the limbs, which had a reddish-purple marbled appearance, resembling the lesions in cutis marmorata telangiectatica congenita.Lúpus neonatal é uma doença rara causada pela transferência de auto-anticorpos maternos para o feto, caracterizada por manifestações clínicas transitórias como cutâneas, hematológicas e hepatobiliares, ou permanentes como o bloqueio cardíaco congênito. As manifestações cutâneas típicas incluem lesões fotossensíveis descamativas, anulares ou arqueadas na face, com discreta atrofia central, clinica e histopatologicamente similares ao lúpus cutâneo subagudo. Entretanto, em alguns casos, as lesões podem lembrar aquelas da cutis marmorata telangiectatica congênita, mas esse fenômeno é raro e somente oito casos foram reportados até hoje. Nós relatamos aqui um caso de lúpus cutâneo neonatal com lesões atípicas nos membros de cor vermelho-purpúricas e aparência marmórea, semelhantes às lesões da cutis marmorata telangiectatica congênita.

Neonatal lupus erythematosus is an autoimmune disease produced by the passage of maternal antinuclear antibodies and extractable nuclear antigen antibodies through the placenta. At the moment of the diagnosis, the mothers are asymptomatic in 40 to 60% of cases. The most common manifestations are cutaneous lesions and congenital heart block. The cutaneous findings are variable and usually begin within the first weeks or months of life. Congenital lupus erythematosus is a congenital variant of neonatal lupus erythematosus. We present one case of congenital lupus erythematosus and one case of neonatal lupus erythematous, showing the variability of this disease.Lúpus eritematoso neonatal é uma doença auto-imune produzida pela passagem de anticorpos maternos antinucleares e anticorpos contra antígenos extraíveis nucleares através da placenta. No momento do diagnóstico, as mães são assintomáticas em 40 a 60% dos casos. As manifestações mais comuns são lesões cutâneas e bloqueio cardíaco congênito. Os achados cutâneos são variáveis e geralmente começam nas primeiras semanas ou meses de vida. Lúpus eritematoso congênito é uma variante do lúpus eritematoso neonatal. Apresentaremos um caso de lúpus eritematoso congênito e um caso de lúpus eritematoso neonatal, mostrando a variabilidade da doença.

OBJETIVO: avaliar a importância da concentração plasmática materna de frutosamina como indicador de cardiopatias congênitas fetais, em gestações complicadas pelo diabetes mellitus. MÉTODOS: o estudo retrospectivo incluiu 91 gestantes portadoras de diabetes mellitus, as quais foram submetidas à ecocardiografia fetal de rotina em centro universitário de referência em Medicina Fetal. Foram selecionadas 65 pacientes que apresentavam diabete pré-gestacional e registro em prontuário médico de frutosamina plasmática anterior ao exame ultrassonográfico. A primeira dosagem registrada foi confrontada com o resultado da ecocardiografia fetal de rotina, realizada por médico especialista do serviço. A presença ou ausência de achados ecográficos de cardiopatia congênita (AECC) foi relacionada aos níveis plasmáticos de frutosamina, por meio de teste de médias, e sua acuidade para AECC verificada por curva ROC. Foram discutidos como pontos de corte os valores da concentração plasmática materna de frutosamina de 2,68, 2,9 e 2,23 mmol/L, que são, respectivamente, o valor de referência local do laboratório, o do kit de dosagem empregado e o de maior acurácia global. RESULTADOS: o AECC foi encontrado em 52,3% dos fetos. A primeira dosagem de frutosamina durante o pré-natal aconteceu em média com 20,4±8,0 semanas de gestação. A capacidade da concentração materna de frutosamina em identificar fetos com AECC foi significante (pPURPOSE: to evaluate the importance of maternal plasma concentration of fructosamine as an indicator of fetal congenital cardiopathies in pregnancies complicated by diabetes mellitus. METHODS: this was a retrospective study conducted on 91 pregnant women with diabetes mellitus who underwent routine fetal echocardiography at a university reference center in fetal medicine. Sixty-five patientes who presented pre-gestational diabetes mellitus and plasma fructosamine level were registered in the medical records prior to the ultrasound exam. The first measurement recorded was compared with the result of routine fetal echocardiography, carried out by a specialist physician of the service. The presence or absence of echocardiographic findings of congenital cardiopathies (EFCC) was related to plasma levels of fructosamine by the mean t-test and its accuracy for EFCC was verified by the ROC curve. Plsama fructosamine concentrations of 2.68, 2.9 and 2.23 mmol/L, which are, respectively, the local reference laboratory values, the value of the kit employed for measurement and the one of highest overall accuracy, were discussed as the cut-off values. RESULTS: EFCC was found in 52.3% of the fetuses. The first measurement of fructosamine, during the prenatal care period, was performed, on average, at 20.4±8.0 weeks of pregnancy. The maternal concentration ability of the fructosamine to identify fetuses with EFCC was significant (p

O estudo constituiu-se em uma revisão bibliográfica sobre malformações congênitas. Os objetivos consistem em fazer um levantamento da produção de enfermagem sobre o tema, apresentando as atuais contribuições referente às questões relacionadas as malformações congênitas e propiciar uma reflexão da atuação dos profissionais de enfermagem frente esta situação. Como resultados a revisão localizou estudos que foram categorizados em unidades temáticas: percepção materna, questões familiares, projeto de monitorização e assistência de enfermagem nas anomalias específicas. A conclusão aponta que a assistência adequada a ser prestada à criança com malformação congênita, demanda além de treinamento técnico, habilidade e sensibilidade da equipe multidisciplinar, o que a torna capaz de perceber e intervir na dimensão bio psicossocial e espiritual da criança e da família.Este estudio se constituye en una revisión bibliográfica sobre malformaciones congénitas. Los objetivos consisten en realizar un levantamiento de la producción de enfermería sobre el tema, presentando las actuales contribuciones referentes a los problemas relacionados a malformaciones congénitas y propiciar una reflexión de la actuación de los profesionales de enfermería frente a esta situación. La revisión nos dio como resultados diversos estudios, que fueron categorizados en las siguientes unidades temáticas: percepción materna, problemas familiares, proyecto de monitorización y asistencia de enfermería en las anomalías específicas. La conclusión muestra que la asistencia adecuada a ser brindada al niño con malformación congénita, demanda, además de entrenamiento técnico, habilidad y sensibilidad del equipo multidisciplinar, lo que le vuelve capaz de percibir e intervenir en la dimensión bio-psicosocial y espiritual del niño y de la familia.The study consisted in a bibliographical revision about congenital malformations. The objectives consist of making a survey of the nursing production about the subject, presenting the current referring contributions related to the questions of congenital malformations and to propitiate a reflection for the performance of nursing professionals when facing this situation. As results, the revision located studies that had been categorized in thematic units: mother perception, familiar questions, monitorization project and nursing care in the specific anomalies. The conclusion points out that the adequate assistance to be given to the child with congenital malformation, demands beyond technician training, ability and sensitivity of the multidisciplinary team, that becomes them capable to perceive and to intervent in the bio-psicossocial and spiritual dimension of the child and the family.